NPHP3 and COL7A1

		NPHP3	COL7A1
Description		nephrocystin 3	collagen type VII alpha 1 chain
Image			No pdb structure
GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Extracellular Region Collagen Trimer Collagen Type VII Trimer Basement Membrane Extracellular Space Endoplasmic Reticulum Lumen COPII-coated ER To Golgi Transport Vesicle Extracellular Matrix Endoplasmic Reticulum-Golgi Intermediate Compartment Membrane
	Molecular Function	Protein Binding	Serine-type Endopeptidase Inhibitor Activity Protein Binding Extracellular Matrix Structural Constituent Conferring Tensile Strength Peptidase Inhibitor Activity
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Lipid Metabolic Process Establishment Or Maintenance Of Cell Polarity Determination Of Left/right Symmetry Wnt Signaling Pathway Extracellular Matrix Organization Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Non-motile Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway	Cell Adhesion Epidermis Development Endodermal Cell Differentiation
Pathways		Trafficking of myristoylated proteins to the cilium	Collagen degradation Collagen degradation Fibronectin matrix formation Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures COPII-mediated vesicle transport Integrin cell surface interactions Anchoring fibril formation Laminin interactions Laminin interactions Cargo concentration in the ER Collagen chain trimerization
Drugs
Diseases		Renal-hepatic-pancreatic dysplasia Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome	Epidermolysis bullosa, dysprophic, including: ; Epidermolysis bullosa dystrophica, AD; Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa; Epidermolysis bullosa, pretibial Transient bullous dermolysis of the newborn
GWAS		Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 21102462 27182965) Serum alkaline phosphatase levels ( 33547301) Subcortical volume (MOSTest) ( 32665545)	Age at first sexual intercourse ( 27089180) Apolipoprotein A1 levels ( 32203549) Bone fracture in osteoporosis ( 28580392) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Crohn's disease ( 28067908) Inflammatory bowel disease ( 28067908) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Ulcerative colitis ( 28067908)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	15 interacting genes: BMP1 COL1A1 COL4A1 FBXL2 FN1 HSPA8 LAMA1 LAMA5 LAMB3 LAMC2 MIA3 MMP2 SHKBP1 THBS1 ZC3H7A
Entrez ID		27031	1294
HPRD ID		06417	00358
Ensembl ID		ENSG00000113971	ENSG00000114270
Uniprot IDs		Q7Z494	Q02388 Q59F16
PDB IDs		5L7K
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	Extracellular Matrix Structural Constituent Extracellular Matrix Basement Membrane Extracellular Region Regulation Of Cell Migration Regulation Of Cell Motility Regulation Of Locomotion Positive Regulation Of Cell Migration Positive Regulation Of Cell Motility Positive Regulation Of Locomotion Extracellular Space Extracellular Structure Organization Extracellular Matrix Organization Laminin-5 Complex Regulation Of Cell Adhesion Endodermal Cell Differentiation Endoplasmic Reticulum Lumen Tube Morphogenesis Morphogenesis Of An Epithelium Intramembranous Ossification Retinal Blood Vessel Morphogenesis Bone Trabecula Formation Fibrinogen Complex Tissue Morphogenesis Blood Coagulation, Fibrin Clot Formation Retina Vasculature Morphogenesis In Camera-type Eye Collagen-activated Tyrosine Kinase Receptor Signaling Pathway Platelet-derived Growth Factor Binding Branching Involved In Salivary Gland Morphogenesis Cellular Response To Amino Acid Stimulus Proteoglycan Binding Collagen-activated Signaling Pathway Cell Adhesion Negative Regulation Of NLRP3 Inflammasome Complex Assembly Blood Vessel Morphogenesis Protease Binding Response To Hyperoxia Animal Organ Development Skeletal System Morphogenesis Angiogenesis Protein Activation Cascade Negative Regulation Of Cell Adhesion Response To Amino Acid Anatomical Structure Morphogenesis Ossification Branching Morphogenesis Of An Epithelial Tube Receptor Ligand Activity Developmental Process Ameboidal-type Cell Migration Integrin Binding
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